List of variants reported as pathogenic for anterior horn disorder by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)	rs80356740	0.00003
NM_000454.5(SOD1):c.435G>C (p.Leu145Phe)	rs1482760341	0.00002
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)	rs137852972	0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	rs387907196	0.00002
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)	rs372000714	0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His)	rs121909335	0.00001
NM_013254.4(TBK1):c.992+1G>A	rs1341055534	0.00001
GRCh37/hg19 12q14.2(chr12:64868010-64895161)
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs)	rs1833438306
NM_004960.4(FUS):c.1394-2del	rs1555509569
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del)	rs1402092579
NM_013254.4(TBK1):c.427C>T (p.Arg143Cys)	rs1027249002
NM_013254.4(TBK1):c.86dup (p.Lys30fs)	rs1592350883
NM_013254.4(TBK1):c.87G>A (p.Lys29=)	rs1592350887

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